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Rasopathy v0.31 | PTPN11 | Zornitza Stark Phenotypes for gene: PTPN11 were changed from LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines); Metachondromatosis, 156250 AD; Noonan syndrome 1, 163950 AD; Leukemia, juvenile myelomonocytic, somatic, 607785 to LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines); Noonan syndrome 1, 163950 AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasopathy v0.15 | PTPN11 | Zornitza Stark Marked gene: PTPN11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasopathy v0.15 | PTPN11 | Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasopathy v0.15 | PTPN11 | Zornitza Stark Phenotypes for gene: PTPN11 were changed from to LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines); Metachondromatosis, 156250 AD; Noonan syndrome 1, 163950 AD; Leukemia, juvenile myelomonocytic, somatic, 607785 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasopathy v0.14 | PTPN11 | Zornitza Stark Mode of pathogenicity for gene: PTPN11 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasopathy v0.13 | PTPN11 | Zornitza Stark Publications for gene: PTPN11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasopathy v0.12 | PTPN11 | Zornitza Stark Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasopathy v0.11 | PTPN11 | Michelle Torres reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 11992261, PMID: 21533187, PMID: 24935154; Phenotypes: LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines), Metachondromatosis, 156250 AD, Noonan syndrome 1, 163950 AD, Leukemia, juvenile myelomonocytic, somatic, 607785; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasopathy v0.0 | PTPN11 |
Zornitza Stark gene: PTPN11 was added gene: PTPN11 was added to Rasopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTPN11 was set to Unknown |